Canonical Allele Identifier: CA3212402690
Community Standard Title: NM_001013703.4(EIF2AK4):c.4205T= (p.Val1402=)
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40020930T= , CM000677.2:g.40020930T= GRCh38
NC_000015.9:g.40313131T= , CM000677.1:g.40313131T= GRCh37
NC_000015.8:g.38100423T= NCBI36
NG_034053.1:g.91807T=

Transcript Alleles

HGVS Amino-acid Change
NM_001013703.4:c.4205T= MANE Select NP_001013725.2:p.Val1402=
ENST00000263791.10:c.4205T= MANE Select ENSP00000263791.5:p.Val1402=
NM_001013703.3:c.4205T= NP_001013725.2:p.Val1402=
ENST00000263791.9:c.4205T= ENSP00000263791.5:p.Val1402=
ENST00000558557.1:n.1197T=
ENST00000558629.5:n.3122T=
ENST00000558743.1:n.405T=
ENST00000560855.5:c.3537T=
XM_005254392.1:c.4205T= XP_005254449.1:p.Val1402=
XM_005254392.3:c.4205T= XP_005254449.1:p.Val1402=
XM_011521599.1:c.4205T= XP_011519901.1:p.Val1402=
XM_011521599.2:c.4205T= XP_011519901.1:p.Val1402=
XM_011521600.1:c.4034T= XP_011519902.1:p.Val1345=
XM_011521600.3:c.4034T= XP_011519902.1:p.Val1345=
XM_017022219.2:c.4034T= XP_016877708.1:p.Val1345=